Monday, October 31, 2011

Happy Halloween!!! Our little Angel was dressed up like a lady bug tonight. Albeit a lady bug who refused to wear her wings and antennas! HA!
So while I was waiting for the Trick or Treaters to come to the door tonight, I sat and started reading a book called Finding Glory in the Thorns: Hope and Purpose in Life's Painful Seasonswhich is a book that popped up on my amazon search for books about AS a few weeks ago. It was written by a couple who have three daughters- the youngest of which has AS! I didn't know it at the time I ordered the book, but thinking back, I guess that is why it came up on a specific search for books on AS. It is a wonderful book for any parent or family that is going through a hard time in life, and specifically those with a special needs child. I have only read the first few chapters (those pesky trick or treaters kept interrupting me! HAHA!) but I am really finding a lot of purpose and value in the words. One thing stood out to me tonight that I really felt lead to share. So lead I couldn't sleep until I wrote this post!

Each morning when I get up, I have to give myself the same pep-talk: You have a child with Angelman Syndrome. Your daughter is disabled. Your daughter has special needs. And GOD is still in control. Every morning, I say those things to myself. Each morning it gets a little easier to accept. But I still find myself thinking "it wasn't supposed to be like this" so many times in my day. There is a palpable sense of dread and sorrow when a toy commercial comes on and "typical" children Ava's age are shown doing things we could only dream of our Ava being able to do right now. When I have to explain to the nosey old lady in the store why Ava doesn't wave to her. Or try to not break down in tears as the mom pushing the swing next to ours at the park complains that her child won't "shut-up." So many things I see and hear and I just can't help but think to myself "this wasn't supposed to happen. It wasn't supposed to be this way." And not all of the times I think it is it a sad moment. Surprisingly enough, many of the times I think that phrase is when Ava does something exciting and I think it in a happy context because I know just how amazing she is! I spend a lot of my day trying to mentally and emotionally balance my logical expectations for her based on the AS with my emotional and deep desire for her to break the mold for AS and do extraordinary things. It is quite the tightrope walk in my head these days- a balancing act between not getting too encouraged and hopeful, but still enough to push through our busy schedule of therapies and doctor visits.

As I was reading the book, the heading "It Wasn't Supposed to Be Like This" caught my attention. Because, I think, it is such a familiar phrase to me these days. The authors expressed so many of the feelings and emotions that I feel that I was almost brought to tears that someone besides Cole and I, another parent, feels the same way. They then pointed out that that is probably what Joesph thought when he found out that Mary was pregnant. His life was turned upside down in a way he never imagined. But he listened to the LORD and look what happened! Prophecy was fulfilled and the LORD JESUS was born! Then they pointed out that Peter expressed a similar feeling to Jesus when Christ told him that he was going to be executed. And by that act of Christ dying on the cross, the world was saved!

Life doesn't always turn out as we plan. This is a hard lesson because, if you know me, you know- I am a PLANNER! I always have been. But I learned fairly early that a good planner is ready to handle anything and be flexible in their plan. They adapt. So I am adapting. It isn't without some resistance and frustration and sadness. I still weep and mourn for the future I dreamed of for my child. I still have moments where I think "this can't be happening" and feel numb to it all. But the Bible teaches us that our plan isn't always the one that the Lord has in mind. But that the Lord's plan is always the one WE should have in mind. Because His plan is the perfect plan for us. It may not be what we want or expect, but it is what is best for us. Ava doesn't have a typical future. And the Lord knew that before any of us were ever created. Before the world was created. But she has a beautiful future that the LORD planned for her long ago, and I am so thankful for the fact that the LORD loves her so much that He personally planned the best future for her. And that I get to be a part of the spectacular life He has in store for her!!!

This was honestly the best one we got in "full costume"...she just was NOT having the headband AT ALL!!!

I adore this one, even with the blurriness! She is looking at me like "what the heck are you doing to me mom!?" She may not talk, but with faces like that, does she really need to?!?! HA!

My goofy Angel STANDING with very little support from mommy. She is doing that more and more these days, and even stood for a few seconds by herself at PT the other day!

Someone had to wear the antennas...

...although Ava didn't like them on his head either!

Happy Lady Bug!!!

And now we have ditched the wings. She looks more like a can-can girl than a lady bug! HA!

Thursday, October 27, 2011

I think, as a parent, anytime your child does something or understands something for the first time, it is a joyous occasion. But if your child has a disorder like AS, or even just unspecified developmental delays, every little accomplishment is a HUGE deal!!!
Well, we had one of those HUGE deals today! Today was the first time - EVER - that I communicated with my child and she actually understood and responded in a way that made me realize, "HEY! She is listening and really gets it!"

She woke up feeling puny, so we decided to cancel OT and head to the doctor's office instead. Turns out, she has another ear infection (second in a month! Poor girl!). But I had put her clothes on her, and was sitting facing her on the floor, socks in hand. She reached for me to take her, but I told her "not yet sweet girl, we still need to put your socks on!" And she looked at me, smiled, and held her foot up for me to put her sock on!!! Then she did the other foot, too!!!

Now many of you, especially if you have a typical child or no children, might not understand why this is such a big deal to me! But I hugged her! I laughed! I cried! I called Cole and my mom! Just as any other mommy would have done if their child had taken a first step or said a first word. Because this was an amazing moment in my child's development!!!

I don't think you can understand how HARD a child with special needs works on development until you see them struggle past hurdles and accomplish goals. And we have accomplished so many goals since beginning therapy- it is just amazing! I thank the Lord each day for the team of therapists, specialists, and physicians that He has placed along our AS path! They are all so special to this mommy's heart!

And I leave you with a random Ava picture...my father-in-law had come down with my grandmother-in-law to see us the other night, and he brought his new Australian Shepard puppy, Foster. He owns a cattle ranch and his dogs are working dogs, but we like them to be family friendly too. I don't think Foster will have ANY problems with that! In fact, if he doesn't work out on the Ranch, we want him!! He is so sweet and smart and really well behaved for a 9 week old puppy! And he LOVES Ava. He followed her around the whole time. She was less interested in him, although I think they could have some super fun wrestling matches if they wanted to! HA!

Sorry the picture is so blurry! Between an angel baby, a 9 week old toddler, and an almost dead camera,
this was the best I could get!! LOL! Foster is the prettiest Aussie puppy I have ever seen! His eyes are almost green, and he is brown/tan/white tricolored. Beautiful dog!

Also, I have recently ordered a couple of books about raising and thriving with a special needs child. I will post book reviews for any interested after I get them read. You know, in my "spare" time! HA!

Monday, October 24, 2011

I mentioned in my last post about working on a therapy area for Ava. It will be going into the craft room, and I am so excited to paint and make it a cute, fun area for her to play and work and learn. I have mentioned before that Ava LOVES therapy, so I am hoping that she will also love working with me at home! And I hope that having this area will help us if we ever decide to do her OT and PT here at the house. We do her Speech here now, and apparently I have a reputation to uphold! HA! Her ST Nicole was bragging on me about how I have every toy in the world and how she doesn't even have to bring her bag in. :)
I really want Ava's Therapy area to be bright and fun, and I do have a thing for owls. I bought some fun wall decals at Home Goods the other day, and I am looking oh so forward to hanging them on the wall!!!

I might also paint some on the wall, and maybe have around the room, just under the crown moulding, say "Whoooo's ready to play and learn?" Or something fun and owlish like that.

Cole and I were talking the other day, and when we didn't get the house *we* wanted, this house, we knew that we were being protected from it for a reason. This had happened before when we bought our old house but had wanted to buy another. And so when it happened this time, we just knew that the Lord wanted us in a different house for a reason. NOW we know what that reason is! The house we wanted had a big, long staircase up to all of the secondary bedrooms, this house doesn't. That house, while it had about 200sqft more, had smaller rooms (just a couple more) and fitting a therapy area in one of the extra rooms would have been a challenge for sure. And that home's backyard was not nearly as big and open as our new backyard, a place that will be great for Ava to run and play and exercise safely one of these days!

Speaking of our new house, I am getting it ready to host Thanksgiving! I am so excited- this will be my first big holiday to host, and I think that it is fitting, because our family really does have so much to be thankful for this year! Cole will be home for Thanksgiving and Christmas this year, and I am so glad! I hate holidays when he has to be gone.

I am also (as I type) waiting on the granite lady to call me back and see when I can go to the stone yard. I can't wait to do something *not* AS related. Bad? Ava's therapy schedule and care consume my life, and I wouldn't have it any other way. But for the last 7 days, since Dr. Burns called and gave the diagnosis, my thoughts have been consumed too. AS is all I can think about. And in thinking about it, I have decided that we can look at it two ways- 1.We can have an Angelman child, or 2. We can have a child, who happens to have AS. And the latter is definitely the way we must approach this. Because Ava is a blessing, the magnitude of which we haven't even begun to comprehend, and she is first and foremost, our child.

Sunday, October 23, 2011

As I was feeding Ava breakfast this morning, I was thinking about how I would rearrange the craft room to make room for Ava's therapy area. I was mentally rearranging the room and moving the majority of my craft supplies into the closet. And I started thinking about how my wedding dress is hanging in that closet. And I have always wanted my daughter(s) to use something off of my wedding dress- lace, beading, etc.- as part of their wedding. At that moment, an overwhelming sadness came over me. The fact that my sweet Ava will, most likely, never know the joy of falling in love, getting married, and having her own family was just about all I could bear at that moment.
Then, out of the blue, Ava signed "more" to me!!! It was the first time she had done this sign, and it was used properly to boot! That is when it hit me- if I spend all of my time mourning the loss of the future and the life that I thought that she had, I will never be able to focus on the life that she does have, and the future that is her's.

When I logged onto Facebook a bit later, someone had posted this...

...and I just had to share. Because I realized that I was mourning something that was never there to begin with! Ava has been an "Angel" since the time she was conceived! And she might not have a typical life and a typical future like a typical child. But she DOES have a life and a future. And I believe that she will bring joy and light and be a witness for our Lord's mercies and goodness to all who know her. And she will teach us things and do things we never thought possible!

When life is going well, when things are great, it is very easy to trust the Lord and give Him praise. But it is in the shadows of life, the challenges on this earth, that we are able to grow in Him and become closer to Him in our walk. A friend recently reminded me of James 1:2-5...

2 Consider it pure joy, my brothers and sisters,[a] whenever you face trials of many kinds, 3 because you know that the testing of your faith produces perseverance. 4 Let perseverance finish its work so that you may be mature and complete, not lacking anything. 5 If any of you lacks wisdom, you should ask God, who gives generously to all without finding fault, and it will be given to you.

I think I will probably find myself reading this passage many times throughout my journey as an Angel's mommy. But I realize as I look in her beautiful eyes and see that bright smile and precious face, it is ALL worth it and I wouldn't change one second.

Friday, October 21, 2011

Ava's daddy *finally* got home from work late last night. Whew! I feel so much better now that the second half of this parenting team is back home! As hard as it was those few days between the diagnosis and his return home, I am just so very thankful that he wasn't halfway around the world when that call came in! This time last year, he was serving our country in Kosovo.

We are enjoying spending time with Daddy and friends, and I am looking forward to being able to have some family time and time to do some things that have been on the back burner for a few weeks. I still need to dye/paint my curtains, and Race for the Cure is tomorrow. And I get to start looking through stone yards and picking my granite now that it has finally cooled off enough to go out there!

We went to the pumpkin patch today. It was a new one that we hadn't tried. I wasn't too impressed with it, but we did have fun and got to spend some time with Ava's BFF "B" and her mommy (and my dear friend) Amanda. Amanda also keeps a friend's daughter "L" while she works, so we had three babies, two moms, and one dad. We were a montly crew, to be sure! HA!

Whew I look bad! But it was too cute of Ava not to share!

Sweetum's Girl! Love those teeth!

She LOVES that paci!

Diggin' for toys!

When Ava wants your attention (which is often) she will climb into your lap, then "sprawl out" and look up at you, just like this! She is just too adorable not to give her what she wants...I have a feeling she is going to be a SPOILED angel!

This girl LOVES her dada!

She will act like she wants me and then turn away at the last minute and just laugh! Little stinker!

She wasn't too sure about the giant pumpkins...

...but she did love the flower!

This is the best family shot we could get...it is hard for any toddler to sit still for a picture, but for a busy little angel, I think it is even more of a challenge!

Only has eyes for daddy...

...and smiles for mommy!

She was trying to jump off of the pumpkin in this one...ha!

“Trust in the LORD with all your heart; do not depend on your own understanding. Seek his will in all you do, and he will direct your paths” (Proverbs 3:5-6, NLT).

Thursday, October 20, 2011

After the phone call on Monday, I have gone through a range of emotions. And I still am. I think writing them is therapeutic for me, even if no one reads my words. But I know that we have so many friends and family members that we love but have not had a chance to speak to, so I think this helps them know what is going on and how we are, too.

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Happy Girl!

We had a neuro-surgical appointment at Arkansas Children's Hospital today, to talk about Ava's MRI results. She has slightly enlarged ventricles in her brain, but the Neurosurgeon didn't seem concerned. We are going to do a CT Scan and go back in 4 months for a follow-up. But he said that they were only very slightly on the high end of the chart, and were really almost on the high side of normal. Which is positive news! We see a neurologist next month about her EEG and seizure possibilities. Please be in prayer for that visit, as well as the GI and Genetics appointments that we have coming up.

I have had such a range of emotions since Monday. One minute I am just fine, and the next I am sobbing uncontrollably! I have moments of shear and utter panic and desperation, and moments of complete calm. I guess that is all normal and part of the journey to acceptance of such a diagnosis. Cole has been at work in Louisiana the last two weeks, and I am so ready for him to be home tonight. I know that he is ready too. This is hard for any family, but being apart has been excruciating for me. Plus, I am so exhausted, I can hardly function. I am not sleeping well at night, and just feel drained during the day. Cole is my key to a good nights sleep! I never sleep well when he isn't in bed next to me!

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Ava's first Halloween

I know that soon, we will get back up to full speed and back to our "normal" life. It is just a process. But in the midst of the first few days of this journey, I can already see so many blessings that we have. I was telling Cole that there are so many mercies in Angelmans, that I am just so thankful for so much!

Love that smile!

A lot of people call me "strong" and talk about what a positive outlook I have. I am trying. It doesn't come naturally or easily, I assure you. But I think you have a choice. In fact, that is what another angel mom said to me. She said you have a choice on how to handle it, but it is your reality and you have to find the good in it, because that is all there is to do.

So I thought I would share with you the blessings that the Lord has given us with this diagnosis...

Seeing Daddy for the first time in many months, Kosovo Deployment 2010

First and foremost, of course, is our Angel Ava. I cannot express to you how much of a blessing she is to my heart and life. She lights up a room with her smile, and when I am just so tired and not sure how to keep going, she looks at me with those big blue eyes (her daddy's eyes) and gives me a hug and a kiss, and my strength is renewed!

My faith in the LORD! I have always wondered how people go through life without knowing the Lord, but my gosh! Never in my life have I needed to rely on my faith so much, and it is continuously amazing to me how big our GOD is! He can take anything we give him, even this!

Family and Friends. My goodness! The outpouring of love and support has been amazing! We thank you all so much for your kind words and prayers- they really mean more than you could ever know! I am especially amazed at the people that I have known for a long time that will email or call and say "I have seizures, how can I help prepare you?" or "My child has special needs, what can I do to give you advice?" It is simply amazing.

Dr. Steven Thompson, and Little Rock Children's Clinic. WOW. Dr. Thompson calls me (personally) all the time to talk about Ava, see how she is doing, ask how Cole and I are, ask if he can do anything to help us. He is so good about listening to me and what I think about AS and Ava. He always makes me feel like we are in this together, not that he is the doctor and so he knows best. In fact yesterday when he called me, he said "Rachel, this isn't going to be easy. But you as her mother and me as her doctor are going to do everything in our power to make her the best she can be. I know you would go to the ends of the earth for her, and I want you to know that I would too." I mean really?! Not many pediatricians would say that!!!

Arkansas Children's Hospital and Dr. Katie Burns. Dr. Burns is the one who actually made Ava's diagnosis. We sat with her last week for about 45 minutes discussing everything Ava! She was so good to answer my questions and listen to my concerns. She and Dr. Thompson are friends, and they had been discussing Ava's case. When she walked in, she said "So this is Ava! I have read all about her!!!" She had *studied* my daughter. Taken an interest in her! That amazed me! And ACH. My goodness! Could we live anywhere better! We live 20 minutes from a world class pediatric hospital that people journey from all over the country and world to visit! I have YET to talk to someone at ACH who isn't just the nicest and most patient individual. They REALLY understand the needs of their patients and their patients parents! You can tell that they CARE about them so much, and I am so thankful for that place!

Angelman Syndrome. Yes, Angelman Syndrome! AS is a difficult diagnosis, but not a devastating one!!! I know people who have held their babies as they went to heaven, and while I know that those babies are with our LORD, I also know how much their families miss them and wish they could hold and kiss and love on them again. And my angel gets to live here on earth with me! And on top of that, because of the AS, she may know pain in life, but never sadness or worry! And I cannot tell you how much that makes me feel better. Plus, because of the new research, there is so much HOPE that Angelman can be reversed and that new drugs can regenerate the missing chromosome and suppress the Angelman symptoms! How awesome!!!

The doctors that are doing the amazing research mentioned above! Need I say more?!?!

Happy baby at a birthday party! Ready for CAKE!

Other Angel Families. They have been so supportive and willing to talk to me and guide me as we navigate these first few steps. I am just blown away at the overall positive and encouraging attitude of angel families. They are all so dear to my heart and we will forever share a common bond that no one else understands. As many of you have pointed out, only special people are blessed with special children, and my goodness! I think that that doesn't even start to describe those who have been blessed with raising an ANGEL!!!

I have had so many emails, FB messages, and wall posts. I will try to answer each soon! I am just trying to take things slowly. I am overwhelmed by all of this, but the love and support from everyone has been astounding. THANK YOU!

Wednesday, October 19, 2011

I have had so many amazing wall posts, emails, and facebook messages of love and support. Thank you all SO very much for supporting our sweet girl and our family as we navigate the first few steps on this difficult journey.

I just wanted to answer a few questions I have gotten from people. Probably one of the most asked (and I am sure wondered about) is how this happened and can it happen again.

Well we don't know exactly how or why this happened (other than the LORD just decided to bless us with an Angel!). Science is, from what I can tell, unsure of why parts of a person's genetic code just has hiccups now and then. We will see a genetics counselor and a geneticist, and we will be tested. But I haven't found anyone with two biological sibling angels. Not that they are not out there. But I see far more families with one angel and one or two (or more!) "typical" children. We definitely do want more children. At least one more. With this diagnosis, that will be more of a challenge than having an infant and a "typical" child, because Ava will require more attention and care than most. However, I know God knew what he was doing when he gave us Ava first. She is so happy, but not always "easy"...but I don't know any different. This is our normal!!!

When I talk to people, they don't know what to say to me. And that is okay. I wouldn't know what to say either. Just knowing that you love me and my family, and that you are praying for us and will be there to support us is enough.

I had a dream last night that Ava was older and people were staring at us. I guess I worry about this because right now, she is young and cute and everyone loves the baby that smiles and laughs in the store. But Ava will also be the 7 year old that gives strangers hugs and the teenager that might try to pull the hair of the checkout lady. So I think I am nervous and trying to prepare myself for those years. In my dream, a lady came up to us and asked what is wrong with Ava. Have you ever had a dream and when you woke up, you thought that it was the Lord giving you words or actions? That is how I felt in this dream. Because if it were ME doing the talking, I would have given her what for! HA! But instead, in my dream, I just said "there is nothing *wrong* with her. In fact, she is more right than I ever dreamed." WOW. I promise my momma clawed mind didn't come up with that one!!!

People have told me how strong I am and how I am the best mother for Ava. I agree that God gave her to me because He knew I would do everything in my power to be an advocate for both her and this syndrome. But I don't think I am strong. Not without the Lord, anyway. He is the glue that holds this fragile woman together these days. And of course the support from family and friends helps tremendously!

I told my sister last night that this syndrome is just amazing to me. And one of the amazing things about it is that people-even some medical professionals- JUST DON'T KNOW ABOUT IT! The foundation NEEDS a chapter in Arkansas. The syndrome NEEDS more awareness events. It is often misdiagnosed as Cerebral Palsy or Autism. Since our diagnosis, her therapists are working on changing her goals to meet her abilities and her needs, which is just ONE reason an accurate diagnosis is SOOOO important. Another reason is that AS children often start seizures between 2-4, and parents need to know and expect these. Let me put it in prospective.... the greeter "Mr Willie" at our local WalMart has a fan group of 4,051 people. The number of people on the AS Foundation FB page *worldwide* is only 4,916. We need to educate and share with both the public and the medical community!

Obviously aside from my child's progress, my heart is in awareness. And I think back to my work background, my background in public speaking, my contacts in the media. Do you think the LORD gave me a heart for awareness for a reason?!?! I am already planning a fun awareness event in the spring sometime!!! More on that later... ;)

I have also been asked what we are doing at home to help Ava. Obviously we spend a lot of time at therapy. But at home we do a lot, too. We have several sensory exercises that her OT gave us to do, and those help tremendously with her focus and attention. We are making the back bedroom into part craft room (it was really too big for just a craft room anyway) and part therapy room. My dad is building a therapy swing (which she LOVES) and we are going to have all sorts of fun things to do. I should note too that Ava LOVES LOVES LOVES therapy. She loves her therapists (and we do too!) and going to therapy is kind of like going to the Wonder Place for her. I don't know any kid that wouldn't love going to therapy!!! It seems so fun, considering it is serious business!!

I wanted to leave you with a poem that was written in 1987 by Emily Perl Kingsley. Many of you may know this poem, but I had never heard it until a couple of days ago. For those without a special needs child, I think it helps you understand the world of a special needs parent. And I think it does an excellent job of reminding special needs parents that it isn't bad. It is just different!!!

Welcome to Holland

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I am often asked to describe the experience of raising a child with a
disability - to try to help people who have not shared that unique experience to
understand it, to imagine how it would feel. It's like this......When you're going to have a baby, it's like planning a fabulous vacation trip
- to Italy. You buy a bunch of guide books and make your wonderful plans. The
Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some
handy phrases in Italian. It's all very exciting.After months of eager anticipation, the day finally arrives. You pack your
bags and off you go. Several hours later, the plane lands. The stewardess comes
in and says, "Welcome to Holland.""Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm
supposed to be in Italy. All my life I've dreamed of going to Italy."But there's been a change in the flight plan. They've landed in Holland and
there you must stay.The important thing is that they haven't taken you to a horrible, disgusting,
filthy place, full of pestilence, famine and disease. It's just a different
place.So you must go out and buy new guide books. And you must learn a whole new
language. And you will meet a whole new group of people you would never have
met.It's just a different place. It's slower-paced than Italy, less flashy than
Italy. But after you've been there for a while and you catch your breath, you
look around.... and you begin to notice that Holland has windmills....and
Holland has tulips. Holland even has Rembrandts.But everyone you know is busy coming and going from Italy... and they're all
bragging about what a wonderful time they had there. And for the rest of your
life, you will say "Yes, that's where I was supposed to go. That's what I had
planned." And the pain of that will never, ever, ever, ever go away... because the loss
of that dream is a very very significant loss.But... if you spend your life mourning the fact that you didn't get to Italy,
you may never be free to enjoy the very special, the very lovely things ...
about Holland.

Tuesday, October 18, 2011

I have known for a while now that there would come a time I would have to/need to write this post. I didn't know exactly what it would say or how I would feel. And I didn't know what the "answer" would be. But I did know...

When Ava was born, we thought she was perfect- and still do! She was 7 lbs of pure joy and love. A "wiggle worm" from the start, we didn't worry too much (as her doctors didn't either) when her first missed milestone happened- sitting up. I was only slightly concerned, but chalked it up to her just being a busy little baby. And eventually she got it. What a joyful day that was for me. That would be the last big milestone that she would hit within the typical "window" of development.

By her 12 month checkup, I had grown very concerned about her delays. But the doctor (not our regular one) basically blew me off. But at her 15 month checkup, the pediatrician (more on that later...) *finally* agreed that YES, we needed to address her global delays (global delays are developmental delays in two or more areas. In Ava's case, speech, fine motor, gross motor, and developmental) and sent us for therapy evaluations. We had the evals done and found that she was very behind in every area and would require 6-7 hours of therapy a week. Not what a parent wants to hear. But it was okay. Most kids with global delays grow out of them and are "typical" children by the time they reach 3 or 4, provided they get early intervention. So we would have a few rough years, but we would get there. Or so I thought.
But something was still bugging me. She didn't have ANY of the risk factors for global delays. I didn't drink when I was pregnant, I had good nutrition and took prenatels everyday. Something just didn't feel right to me. I think as a mother, sometimes the Lord gives you the ability to "just know" something about your child. And I just KNEW. So we went back to the doctor. This time, we saw our doctor on record, Dr. Thompson. We had chosen him out of the clinic doctors because, of all things, he is a pilot. HA! It is amazing to me how the Lord puts people in your life before you understand the full gravity of their impact on your life. We had been "floating" around to the other pediatricians so that I would know who I like and who I don't, and because Ava just wasn't sick often, we used our well checkups to do so. So it had been probably 6 or more months since Dr. Thompson had seen her. Well come to find out, Dr. Thompson has a reputation among therapists as being one of the BEST about taking delays seriously, looking into the causes, ordering tests and conferring with specialists. And he did not disappoint! He immediately ordered a string of tests including urine and blood work ups, an EEG, and MRI, a swallow study, and he got us in to see a developmental pediatrician.

I should note at this point that everything that has happened, has happened in the last two months. And it has been an earth shaking, life altering two months. Full of fear, stress, heartache, sleepless nights, and lots of praying!

So we had our developmental pediatrician visit this past week. And she told us that she thought Ava might have a genetic syndrome called VCFS. It is the most common of all genetic syndromes and although it can make you horribly sick, Ava seemed to have a mild case and would likely just have learning issues, but that she would grow to live a normal, productive life. Ok. That is fine. I could deal with that. But there were still things that bothered me. The spitting up, for one. It still happens, at 20 months, and it just had to be related! What are the chances of a child having a semi-rare genetic disorder AND major reflux issues. And even with a mild form, she didn't seem to "fit" the typical VCFS case. I think I still knew it wasn't right...
And I was right. Yesterday around lunch, I got the call that flipped our entire world on it's head. I wasn't expecting it, honestly. But it happened. Dr. Burns called. Her genetic testing was back. The chromosome that causes VCFS was fine. But another wasn't. The 15th. A problem with the 15th Chromosome is called ANGELMAN SYNDROME. Angelman syndrome is extremely rare, only occurring in appx 1 in 30,000 live births. We are still not sure what form of Angelman Ava has because more testing and a harder look at her 15th chromosome is needed. And that will kind of help us determine the severity of her case. It is a spectrum disorder like autism, but there are some commonalities among all "Angels" like my sweet Ava.

The hardest thing, to this mommy's heart, is to accept the fact that she will never live outside of an unsupported environment. She will always need assistance. The equally as difficult thing to hear is that she will be mostly nonverbal. Angelman individuals usually only have a vocabulary of between 1-20 words and communicate with a mixture of words, sign language, and communication devices, depending on their intellectual capacity. There is a component of mental retardation, but some less severe Angelman individuals show evidence of high intelligence. The saying is "I may not speak, but I have much to say." The other worrisome thing is the seizure component to the syndrome. She hasn't started yet, but 80-90% of Angels do have some degree of seizures and because her EEG and MRI showed slight, yet nonspecific, abnormalities, we do expect them to occur. They usually start between the ages of 2-4.

As difficult as this might be to believe, Angelman isn't the worse diagnosis to hear. Don't get me wrong, it isn't the best. There are so many hopes and dreams that I have been having to let go of for my baby girl...it is gut wrenching mourning the loss of the future you thought your child had, that you wanted for them. But in the midst of that heartbreaking sadness, I am reminded of the LORDs faithfulness and love. And what a pure example of Christlike love that Angels like Ava are!

All Angels share certain characteristics regardless of their severity. And to me, the most striking characteristic, and usually the one that strangers notice first, is their overtly happy nature and love for people. That is actually part of the syndrome!!! Of all of the genetic issues that we could have had (and there are hundreds out there!), our daughter has the one that makes her happy!!! As sad as I am, I rejoice in knowing that my baby will never understand great sadness or depression or worry. You have heard the expression "it's not in her nature."? Well it really isn't in Ava's nature to feel any of those things! It is programmed into her genetic code to be happy!

When I read about Angelman Syndrome, I was astounded. It was truly as if someone had sat down with Ava and just written a syndrome based on what they observed of her! Had I known about Angelman before, I could have told them that it was what she had!

I made a list for her therapists about Angelman characteristics that Ava has, since it is a rare syndrome and they likely know nothing about it at this point.

Angel Ava:

Hyperactivity

Spitting up/severe reflux

Aggressive appetite

Frequent and inappropriate laughter and giggles

Overtly happy demeanor

Overtly social behavior

Heat intolerance

Extreme temp changes in extremities

High pain tolerance

Use of feet for play and manipulation

Love of water

Love of dogs

Excellent visual memory

Depth perception issues

Global delays

Excited “moan” or “grunt”

Some textile intolerance (mostly hair bows and shoes)

Oral sensory issues/mouthing of objects

Hair pulling

Extremely fast grabs for food, hair, glasses, etc.

We have many challenges ahead. And prayers are greatly needed and appreciated. I am sure there will be times that our Faith is what gets us through the day, and times where our Faith is tested and pushed to the edge. But a life with Angelman is also a life with a great joy and lots of laughter. And for that I am thankful. I remember a few months ago, our pastor said that "the Bible doesn't say that life is going to be good and easy. It says that the LORD will work everything for the good of those that love Him and are called to His purpose." I don't know why the Lord chose us to be Ava's parents, but I am so glad He did. She is just a joy and a precious addition to this earth. And the amazing thing about Angelman is that, regardless of her intellectual ability, she will always retain that childlike joy and purity that she has now! I know great blessings are going to come out of this diagnosis. In my true spirit of planning, I am already thinking of ways to raise awareness and money for the cause.

And there is always HOPE! A doctor in Florida has been able to actually reverse the syndrome in mice!!!! That is AMAZINGLY exciting!!! And the foundation recently won a grant that will allow the doctor to go into clinical trials for the process. He believes that the same process can also help people with autism and Alzheimer's!!!

I would also like to mention that, although we do not yet know for sure the severity of Ava's case, it does seem to us (her family and therapists) to be somewhat mild. Many Angels do not sit up until after their 1st birthday, but she was! And she seems to have very high visual memory skills (she squeals with delight when we turn onto our street! and knows exactly where the water in our house is and how to make it happen- if she gets away from me, I know that she is in our bathroom turning on the bathtub water!). She also is close to walking and cruses well for an angel, while most angels who do walk don't do so until 4 or 5. So I am hopeful in that, too.

If you would like to learn more about Angelman Syndrome, you can visit www.angelman.org. Right now, the foundation doesn't have a chapter in Arkansas, but that is probably going to change if I have anything to do with it! ;)

I would like to also thank you all for your words of encouragement, support, and love. Please understand that this has been a lot for our family to digest and process in a very short period of time, and there are many more challenging days ahead. I would be happy to answer questions...eventually. But right now I just can't. Either because it is too difficult emotionally or because I simply do not know. I hope you understand and we appreciate the continued love and support. And of course, PRAYERS!!!

Sunday, October 9, 2011

Okay friends. I haven't really touched my bedroom since we moved in around the first of July. Okay, that isn't the total truth. I did hang the art. And arrange the furniture. And I did hang some brown curtain panels that I had (which I never even took a picture of because apparently I was THAT embarrassed by them.) The panels themselves were not bad, and definitely better than the "Gone With the Wind" treatments that were there previously (see below picture for proof). However, they were not long enough and really accentuated the fact that our bedroom windows are kind of, well....squatty. ﻿

Anywhooooo, so I decided to jump on the drop cloth for curtains bandwagon that has been going through the blogosphere, and went off to Home Depot (because they are rumored to have the BEST drop cloth for curtains around- even better than my beloved, Lowes). I came home with four 6x9 drop cloths curtain panels. As instructed, I washed, partially dried, and then ironed them. I hung them from cheap curtain rods and clips, also from the home depot. And I really like them (I need to add more rings to the panels on the right window. Pretend that they look like the left ones, okay?! Thaaanks.) ﻿

So I like them. I do. I really do! But do you see my problem? I am sure you do, my dear bloggies. They are exactly the same just a little too close in color to the wall. Yup. Sad day in the Brewer house. I think paint is required....

But my question is: WHAT SHOULD I PAINT??? I mean, I could paint the curtains. Or I could paint the wall as an accent wall. Or I could paint the whole room (which would be a huge pain in the rear and probably cause a stink with the hubs).

And if I do paint the wall as an accent wall, do I paint the tray part of the tray ceiling (that is the current wall color?) Or leave it be?

Whatever I decide to paint, I think I am going to paint it the same color as that rust colored pillow on my bed. Which you cannot really see because I am sure my camera is on the wrong setting as I am a horrid photographer. But I love that color!
And yes, if you read Thrifty Decor Chick's blog, you know I straight up copied her bedding. Which is from Target. To be fair, I totally could have found that bedding on my own at Target whilst wondering around as I do so often! I didn't. But I could have!!! ;)